Brachydactyly, and High, narrow palate

Diseases related with Brachydactyly and High, narrow palate

In the following list you will find some of the most common rare diseases related to Brachydactyly and High, narrow palate that can help you solving undiagnosed cases.


Top matches:

Medium match CLEIDOCRANIAL DYSPLASIA; CCD


The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

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Other less relevant matches:

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match CARDIOSPONDYLOCARPOFACIAL SYNDROME


Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Medium match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Top 5 symptoms//phenotypes associated to Brachydactyly and High, narrow palate

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and High, narrow palate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Short palm Generalized hypotonia Strabismus Delayed speech and language development Long philtrum Global developmental delay Anteverted nares Growth delay Cleft palate Specific learning disability High palate Thin upper lip vermilion Broad nasal tip Frontal bossing Seizures Depressed nasal bridge Midface retrusion Pectus excavatum Macrocephaly Clinodactyly of the 5th finger Short foot Downslanted palpebral fissures Cryptorchidism Postnatal growth retardation Gastroesophageal reflux Posteriorly rotated ears Microcephaly Retrognathia Severe short stature Failure to thrive Myopia Absent speech Decreased testicular size Upslanted palpebral fissure Tapered finger Feeding difficulties Deeply set eye Aggressive behavior Wormian bones Mandibular prognathia Clinodactyly Wide nose Intrauterine growth retardation Delayed eruption of teeth Sparse hair Abnormality of the dentition Low-set ears Hip dysplasia Coxa vara Cone-shaped epiphysis Prominent forehead Increased number of teeth

Rare Symptoms - Less than 30% cases


Short metacarpal Talipes equinovarus Intellectual disability, severe Small hand Hypoplasia of the maxilla Short phalanx of finger Triangular face Reduced tendon reflexes Oligodontia Bulbous nose Thin vermilion border Micropenis Autism Macrotia Short metatarsal Short digit Hypoplasia of the corpus callosum Protruding ear Short philtrum Short neck Short nose Alopecia Proptosis Eczema Hirsutism Synophrys Gait imbalance Hypodontia Attention deficit hyperactivity disorder Long eyelashes Autistic behavior Anxiety Sacral dimple Constipation Epicanthus Abnormal form of the vertebral bodies Camptodactyly of finger Wide mouth Narrow palpebral fissure Poor speech Paraplegia Smooth philtrum Short distal phalanx of finger Sparse scalp hair Coarse facial features Nystagmus Obesity Hernia Wide nasal bridge Ataxia Delayed skeletal maturation Conductive hearing impairment Full cheeks Thick lower lip vermilion Curly eyelashes Joint laxity Brachycephaly Hypoplastic scapulae Open bite Chronic otitis media Abnormality of the metacarpal bones Short clavicles Hemivertebrae Delayed eruption of permanent teeth Abnormality of epiphysis morphology Hypoplasia of dental enamel Recurrent otitis media Genu valgum Narrow chest Intellectual disability, moderate Broad forehead Large fontanelles Osteoporosis Skeletal dysplasia Malar flattening Syndactyly Cognitive impairment Kyphosis Aganglionic megacolon Blepharophimosis Prominent protruding coccyx Amenorrhea Broad chin Small for gestational age Tricuspid regurgitation Hypoplasia of the uterus Macular dystrophy Thickened ears Prominent coccyx Caesarian section Pigmentary retinopathy Clubbing Radial deviation of finger Talipes cavus equinovarus Abnormality of the septum pellucidum Postaxial hand polydactyly Anosmia Bicuspid aortic valve Situs inversus totalis Hepatic fibrosis Toenail dysplasia Primary amenorrhea Abnormality of cardiovascular system morphology Dental crowding Left ventricular hypertrophy Abnormality of the genital system Sleep-wake cycle disturbance Oral-pharyngeal dysphagia Nasolacrimal duct obstruction Dystonia Long face Abnormality of eye movement Tapetoretinal degeneration Microphallus Biliary tract abnormality Osteopenia Cerebellar hypoplasia Cerebellar atrophy Menstrual irregularities Ventriculomegaly Dysphagia Tremor Nephrogenic diabetes insipidus Hydrometrocolpos Onychogryposis of fingernail Naevus flammeus of the eyelid Joint hypermobility Vaginal atresia Thickened helices Delayed gross motor development External genital hypoplasia Depressed nasal tip Aplasia cutis congenita Spastic diplegia Flat occiput Thick eyebrow Prominent supraorbital ridges Microretrognathia Abnormality of the ovary Truncal obesity Nephronophthisis Foot polydactyly Pointed chin Cerebellar vermis hypoplasia Poor coordination Broad foot Undetectable electroretinogram Hypotrichosis Short palpebral fissure Everted lower lip vermilion Thick nasal alae Periventricular leukomalacia Diaphragmatic eventration Unilateral narrow palpebral fissure Prominent interphalangeal joints Testicular torsion Prominent eyelashes Euryblepharon Excessive wrinkled skin Motor delay Broad distal phalanx of finger Eclabion Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Prominent proximal interphalangeal joints Atrial septal defect Abnormality of finger Infantile spasms Stereotypy Small nail Dandy-Walker malformation Plagiocephaly Deep philtrum Abnormality of the hand Short middle phalanx of finger Arachnoid cyst Hyperactivity Single transverse palmar crease Thick vermilion border High anterior hairline Low-set, posteriorly rotated ears Large forehead Kyphoscoliosis Tics High forehead Echolalia Cataract Highly arched eyebrow Absence seizures Neurological speech impairment Pulmonic stenosis Astigmatism Accelerated skeletal maturation Retinal degeneration Joint dislocation Stage 5 chronic kidney disease Iris coloboma Coloboma Postaxial polydactyly Low anterior hairline Broad-based gait Retinal dystrophy Finger clinodactyly Asthma Status epilepticus Wide intermamillary distance Retinopathy Abnormality of the kidney Epileptic spasms Hypertension Protruding tongue Narrow nasal bridge Dysphasia Aphasia Absent eyebrow Overfolded helix Mutism Visual impairment Renal insufficiency Sandal gap Rod-cone dystrophy Hypogonadism Drooling Diabetes mellitus Glaucoma Widely spaced teeth Polydactyly Reduced visual acuity Clubbing of toes Mitral valve prolapse Abnormality of the penis Dimple chin Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Abnormality of the thumb Arrhythmia Dystrophic fingernails Dystrophic toenail Decreased skull ossification Down-sloping shoulders Hypoplasia of the zygomatic bone Hearing abnormality Glossoptosis Sprengel anomaly Depressivity Elevated serum creatine phosphokinase Sleep apnea Scapular winging Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Growth abnormality Ventricular arrhythmia Abnormal palate morphology Ventricular tachycardia Bilateral single transverse palmar creases Dilated cardiomyopathy Cardiac arrest Palpitations Febrile seizures Syncope Sudden cardiac death Limb muscle weakness Toe syndactyly Dolichocephaly Abnormality of pelvic girdle bone morphology Spina bifida occulta Ventricular extrasystoles Short femoral neck Short middle phalanx of the 5th finger Spondylolisthesis Osteolytic defects of the phalanges of the hand Hypoplastic iliac wing Abnormality of the clavicle Cone-shaped epiphyses of the phalanges of the hand Syringomyelia Thickened calvaria Neonatal respiratory distress Cervical ribs Increased susceptibility to fractures Short ribs Increased bone mineral density Otitis media Dental malocclusion Pes planus Respiratory distress Abnormality of the skeletal system Aplastic clavicle Parietal foramina Abnormality of dental enamel Persistent open anterior fontanelle Sinusitis Abnormality of the ribs Sloping forehead Recurrent fractures Carious teeth Recurrent respiratory infections Abnormal facility in opposing the shoulders Long second metacarpal Wide pubic symphysis Delayed eruption of primary teeth Delayed pubic bone ossification Absent paranasal sinuses Short middle phalanx of the 2nd finger Large foramen magnum Spondylolysis Moderately short stature Hypoplastic frontal sinuses Parietal bossing Absent frontal sinuses Short finger Left bundle branch block Ridged fingernail Delayed ossification of carpal bones Pectus carinatum Umbilical hernia Inguinal hernia Hypospadias Ptosis Failure of eruption of permanent teeth Synostosis of carpals/tarsals Pseudoepiphyses Fused cervical vertebrae Hip dislocation Rib fusion Misalignment of teeth Severe failure to thrive Carpal synostosis Synostosis of carpal bones Freckling Tarsal synostosis Congenital sensorineural hearing impairment Finger syndactyly Micromelia Mitral regurgitation Bifid tongue Hypoplastic labia minora Abnormality of the gingiva Clitoral hypoplasia Median cleft lip and palate Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Downturned corners of mouth Anodontia Capillary hemangioma Long palpebral fissure Elbow dislocation Coxa valga Gingival overgrowth Blue sclerae Hypoplasia of penis Horseshoe kidney Vesicoureteral reflux T-wave inversion Muscle fiber tubular inclusions Prominent nasal bridge Babinski sign Hyperreflexia Spasticity Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Effort-induced polymorphic ventricular tachycardias Hypermetropia Periodic hypokalemic paresis Short mandibular rami Clinodactyly of the 5th toe First degree atrioventricular block Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes Spastic paraplegia Falls Abnormal cardiac septum morphology Furrowed tongue Abnormality of the eye Telecanthus Talipes calcaneovarus Small forehead Low frustration tolerance Lower limb hypertonia Alopecia areata Diastema Shuffling gait Interphalangeal joint contracture of finger Distal lower limb amyotrophy Facial hypotonia Restlessness Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Intellectual disability, progressive Decreased body weight Septate vagina



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